Canonical Allele Identifier: CA346095111

Gene: HADHA

Linked Data

• ClinVar Variation Id: 1896444
• ClinVar RCV Id: RCV002575208 ; RCV003418546
• gnomAD v4: 2-26238941-T-C
• MyVariant Identifiers: chr2:g.26461809T>C (hg19) ; chr2:g.26238941T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26238941T>C , CM000664.2:g.26238941T>C	GRCh38
NC_000002.11:g.26461809T>C , CM000664.1:g.26461809T>C	GRCh37
NC_000002.10:g.26315313T>C	NCBI36
NG_007121.1:g.10681A>G
NG_007121.2:g.10681A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000380649.8:c.173A>G MANE Select	ENSP00000370023.3:p.Asn58Ser
ENST00000471743.2:n.184A>G
ENST00000492433.2:c.173A>G	ENSP00000438039.2:p.Asn58Ser
ENST00000643057.1:c.*64A>G	ENSP00000493761.1:n.*64A>G
ENST00000643063.1:c.173A>G	ENSP00000495353.1:p.Asn58Ser
ENST00000643233.1:c.*64A>G	ENSP00000493880.1:n.*64A>G
ENST00000644428.1:c.173A>G	ENSP00000495560.1:p.Asn58Ser
ENST00000645274.1:c.173A>G	ENSP00000493996.1:p.Asn58Ser
ENST00000646483.1:c.173A>G	ENSP00000496185.1:p.Asn58Ser
ENST00000380649.7:c.173A>G	ENSP00000370023.3:p.Asn58Ser
NM_000182.4:c.173A>G	NP_000173.2:p.Asn58Ser
NM_000182.5:c.173A>G MANE Select	NP_000173.2:p.Asn58Ser